Variant report

Variant	rs10493899
Chromosome Location	chr1:98598452-98598453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12069773	0.96[EUR][1000 genomes]
rs12082064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13373752	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13374002	0.88[EUR][1000 genomes]
rs17100664	1.00[EUR][1000 genomes]
rs17117724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17381615	0.98[EUR][1000 genomes]
rs17385693	0.98[EUR][1000 genomes]
rs2200584	0.98[EUR][1000 genomes]
rs72737820	1.00[EUR][1000 genomes]
rs7554083	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7554282	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs977630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv432531	chr1:98524979-98604179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv823631	chr1:98554257-98687985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv462583	chr1:98554409-98645213	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546875	chr1:98554409-98645213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv524846	chr1:98592630-98598452	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
9	nsv524889	chr1:98592630-98604137	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
10	nsv523942	chr1:98595853-98605413	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98597800-98599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:98598200-98599000	Enhancers	Liver	Liver
3	chr1:98598200-98599400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:98598200-98599400	Enhancers	HSMMtube	muscle
5	chr1:98598200-98599600	Enhancers	Fetal Brain Male	brain
6	chr1:98598200-98599600	Enhancers	Fetal Heart	heart
7	chr1:98598400-98598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:98598400-98599200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:98598400-98599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:98598400-98599600	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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